A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455981



Internal ID15516046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71551509..71622849hg38UCSC Ensembl
Innerchr13:72125641..72196981hg19UCSC Ensembl
Innerchr13:71023642..71094982hg18UCSC Ensembl
Innerchr13:71023642..71094982hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3871341
hg1971341
hg1871341
hg1771341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533421
SamplesHGDP00963
Known GenesDACH1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv455981
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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